Canonical Allele Identifier: CA390513680

Gene: POMT2

Linked Data

• MyVariant Identifiers: chr14:g.77744845A>C (hg19) ; chr14:g.77278502A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.77278502A>C , CM000676.2:g.77278502A>C	GRCh38
NC_000014.8:g.77744845A>C , CM000676.1:g.77744845A>C	GRCh37
NC_000014.7:g.76814598A>C	NCBI36
NG_008897.1:g.47381T>G , LRG_844:g.47381T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000555134.2:n.964T>G
ENST00000556394.2:c.1580T>G	ENSP00000451967.2:p.Leu527Arg
ENST00000682247.1:c.2028T>G	ENSP00000507213.1:p.Ser676=
ENST00000682395.1:n.2503T>G
ENST00000682459.1:n.1742T>G
ENST00000682467.1:c.1898T>G	ENSP00000508062.1:p.Leu633Arg
ENST00000682795.1:c.2186T>G	ENSP00000507574.1:p.Leu729Arg
ENST00000682895.1:n.1755T>G
ENST00000682955.1:n.1613T>G
ENST00000683188.1:c.2300T>G
ENST00000683380.1:n.1703T>G
ENST00000683907.1:c.304T>G	ENSP00000507754.1:n.304T>G
ENST00000684259.1:n.3806T>G
ENST00000684538.1:n.1418T>G
ENST00000684549.1:n.1590T>G
ENST00000261534.9:c.2039T>G MANE Select	ENSP00000261534.4:p.Leu680Arg
ENST00000261534.8:c.2039T>G	ENSP00000261534.4:p.Leu680Arg
ENST00000452340.7:n.3015T>G
ENST00000554767.5:n.2825T>G
ENST00000555710.1:c.400T>G	ENSP00000451730.1:n.400T>G
ENST00000556394.1:c.94T>G
ENST00000556446.1:n.340T>G
ENST00000602717.5:c.254T>G	ENSP00000487704.1:p.Leu85Arg
NM_013382.5:c.2039T>G , LRG_844t1:c.2039T>G	NP_037514.2:p.Leu680Arg
XM_011536675.1:c.2228T>G	XP_011534977.1:p.Leu743Arg
XM_011536676.1:c.1895T>G	XP_011534978.1:p.Leu632Arg
XM_011536677.1:c.1769T>G	XP_011534979.1:p.Leu590Arg
XM_011536679.1:c.1322T>G	XP_011534981.1:p.Leu441Arg
XR_943416.1:n.2292T>G
XM_011536675.2:c.2228T>G	XP_011534977.1:p.Leu743Arg
XM_011536676.2:c.1895T>G	XP_011534978.1:p.Leu632Arg
XM_011536677.3:c.1769T>G	XP_011534979.1:p.Leu590Arg
XR_001750279.1:n.2325T>G
XR_001750282.1:n.2978T>G
XR_943416.3:n.2290T>G
NM_013382.6:c.2039T>G	NP_037514.2:p.Leu680Arg
NM_013382.7:c.2039T>G MANE Select	NP_037514.2:p.Leu680Arg